Canonical Allele Identifier: CA2573136849

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1366872
• ClinVar RCV Id: RCV001962172
• dbSNP Id: rs2109015232

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638048_193638049insTCA , CM000665.2:g.193638048_193638049insTCA	GRCh38
NC_000003.11:g.193355837_193355838insTCA , CM000665.1:g.193355837_193355838insTCA	GRCh37
NC_000003.10:g.194838531_194838532insTCA	NCBI36
NG_011605.1:g.49905_49906insTCA , LRG_337:g.49905_49906insTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1132_1133insTCA MANE Select	ENSP00000355324.2:p.Met377_Thr378insIle
ENST00000361828.7:c.967_968insTCA	ENSP00000354429.3:p.Met322_Thr323insIle
ENST00000361908.8:c.1078_1079insTCA	ENSP00000354681.3:p.Met359_Thr360insIle
ENST00000392436.7:c.967_968insTCA	ENSP00000376231.3:p.Met322_Thr323insIle
ENST00000392437.6:c.1021_1022insTCA	ENSP00000376232.2:p.Met340_Thr341insIle
ENST00000642289.1:c.1062_1063insTCA
ENST00000642445.1:c.967_968insTCA	ENSP00000495535.1:p.Met322_Thr323insIle
ENST00000642593.1:c.967_968insTCA	ENSP00000494273.1:p.Met322_Thr323insIle
ENST00000643329.1:c.649_650insTCA	ENSP00000493673.1:p.Met216_Thr217insIle
ENST00000643737.1:c.*1048_*1049insTCA	ENSP00000494210.1:n.*1048_*1049insTCA
ENST00000644595.1:c.967_968insTCA	ENSP00000494121.1:p.Met322_Thr323insIle
ENST00000644629.1:c.627_628insTCA
ENST00000644841.1:c.595_596insTCA	ENSP00000493988.1:p.Met198_Thr199insIle
ENST00000644959.1:c.936_937insTCA
ENST00000645553.1:c.982_983insTCA	ENSP00000494725.1:p.Met327_Thr328insIle
ENST00000646085.1:c.*445_*446insTCA	ENSP00000494509.1:n.*445_*446insTCA
ENST00000646277.1:c.1132_1133insTCA	ENSP00000495289.1:p.Met377_Thr378insIle
ENST00000646544.1:c.30_31insTCA
ENST00000646699.1:c.1062_1063insTCA
ENST00000646793.1:c.859_860insTCA	ENSP00000494512.1:p.Met286_Thr287insIle
ENST00000361150.6:c.970_971insTCA	ENSP00000354781.2:p.Met323_Thr324insIle
ENST00000361510.6:c.1132_1133insTCA	ENSP00000355324.2:p.Met377_Thr378insIle
ENST00000361715.6:c.1024_1025insTCA	ENSP00000355311.2:p.Met341_Thr342insIle
ENST00000361828.6:c.1021_1022insTCA	ENSP00000354429.2:p.Met340_Thr341insIle
ENST00000361908.7:c.1078_1079insTCA	ENSP00000354681.3:p.Met359_Thr360insIle
ENST00000392438.7:c.967_968insTCA	ENSP00000376233.3:p.Met322_Thr323insIle
ENST00000475899.1:n.163_164insTCA
ENST00000497189.5:n.453_454insTCA
NM_015560.2:c.967_968insTCA , LRG_337t1:c.967_968insTCA	NP_056375.2:p.Met322_Thr323insIle
NM_130831.2:c.859_860insTCA	NP_570844.1:p.Met286_Thr287insIle
NM_130832.2:c.913_914insTCA	NP_570845.1:p.Met304_Thr305insIle
NM_130833.2:c.970_971insTCA	NP_570846.1:p.Met323_Thr324insIle
NM_130834.2:c.1021_1022insTCA	NP_570847.2:p.Met340_Thr341insIle
NM_130835.2:c.1024_1025insTCA	NP_570848.1:p.Met341_Thr342insIle
NM_130836.2:c.1078_1079insTCA	NP_570849.2:p.Met359_Thr360insIle
NM_130837.2:c.1132_1133insTCA , LRG_337t2:c.1132_1133insTCA	NP_570850.2:p.Met377_Thr378insIle
XM_011512863.1:c.1132_1133insTCA	XP_011511165.1:p.Met377_Thr378insIle
XM_011512864.1:c.1078_1079insTCA	XP_011511166.1:p.Met359_Thr360insIle
XM_011512865.1:c.1021_1022insTCA	XP_011511167.1:p.Met340_Thr341insIle
XM_011512866.1:c.970_971insTCA	XP_011511168.1:p.Met323_Thr324insIle
XM_011512867.1:c.967_968insTCA	XP_011511169.1:p.Met322_Thr323insIle
XM_011512868.1:c.859_860insTCA	XP_011511170.1:p.Met286_Thr287insIle
XM_011512869.1:c.1132_1133insTCA	XP_011511171.1:p.Met377_Thr378insIle
NM_001354663.1:c.598_599insTCA	NP_001341592.1:p.Met199_Thr200insIle
NM_001354664.1:c.595_596insTCA	NP_001341593.1:p.Met198_Thr199insIle
XR_001740158.2:n.1361_1362insTCA
XR_001740159.2:n.1196_1197insTCA
NM_001354663.2:c.598_599insTCA	NP_001341592.1:p.Met199_Thr200insIle
NM_001354664.2:c.595_596insTCA	NP_001341593.1:p.Met198_Thr199insIle
NM_130831.3:c.859_860insTCA	NP_570844.1:p.Met286_Thr287insIle
NM_130832.3:c.913_914insTCA	NP_570845.1:p.Met304_Thr305insIle
NM_130834.3:c.1021_1022insTCA	NP_570847.2:p.Met340_Thr341insIle
NM_130836.3:c.1078_1079insTCA	NP_570849.2:p.Met359_Thr360insIle
NM_015560.3:c.967_968insTCA	NP_056375.2:p.Met322_Thr323insIle
NM_130833.3:c.970_971insTCA	NP_570846.1:p.Met323_Thr324insIle
NM_130835.3:c.1024_1025insTCA	NP_570848.1:p.Met341_Thr342insIle
NM_130837.3:c.1132_1133insTCA MANE Select	NP_570850.2:p.Met377_Thr378insIle